Genopathy
Gene-Disorder Association · Article
Gene
COL17A1
Collagen Type XVII Alpha 1 Chain
Disorder
Epidermolysis Bullosa
First reported 1997
Supporting publications 3
Key publication · gene–disorder Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa.Human genetics · 1997
Key publication · disorder [Mechanism of formation of bullae in simple epidermolysis bullosa].Annales de dermatologie et de syphiligraphie · 1950
Manually curated
Association Review

In brief

The association between COL17A1 (Collagen Type XVII Alpha 1 Chain) and Epidermolysis Bullosa is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 3
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
COL17A1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Epidermolysis Bullosa

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Literature

Reading

3 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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06
Provenance

References & sources

5 references

Every source and publication cited across this dossier, as one numbered reference list.

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